title: The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
abstract: There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysis of phenotypic data has been hampered by lack of adequate computational data structures. Therefore, we have developed a Human Phenotype Ontology (HPO) with over 8000 terms representing individual phenotypic anomalies and have annotated all clinical entries in Online Mendelian Inheritance in Man with the terms of the HPO. We show that the HPO is able to capture phenotypic similarities between diseases in a useful and highly significant fashion.
authors.affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany. peter.robinson@charite.de
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
authors.forename: Sebastian
authors.initials: S
authors.lastname: Köhler
authors.forename: Sebastian
authors.initials: S
authors.lastname: Bauer
authors.forename: Dominik
authors.initials: D
authors.lastname: Seelow
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
mesh_terms: D019295:Computational Biology; D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn; D006801:Humans; D010641:Phenotype; D012984:Software